SNP Links for Protein (Select 578828606) - SNP

Links from Protein

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Select item 14828558931.

rs1482855893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:21170493 (GRCh38)
16:21181814 (GRCh37)
Canonical SPDI:: NC_000016.10:21170492:G:C
Gene:: LDAF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.21170493G>C, NC_000016.9:g.21181814G>C, NM_020422.6:c.153G>C, NM_020422.5:c.153G>C, NM_020422.4:c.153G>C, XM_006721067.5:c.225G>C, XM_006721067.4:c.225G>C, XM_006721067.3:c.225G>C, XM_006721067.2:c.225G>C, XM_006721067.1:c.225G>C, XM_006721069.4:c.225G>C, XM_006721069.3:c.225G>C, XM_006721069.2:c.225G>C, XM_006721069.1:c.225G>C, XM_017023473.3:c.153G>C, XM_017023473.2:c.153G>C, XM_017023473.1:c.153G>C, XM_006721066.3:c.225G>C, XM_006721066.2:c.225G>C, XM_006721066.1:c.225G>C, XM_017023471.2:c.225G>C, XM_017023471.1:c.225G>C, XM_017023474.2:c.153G>C, XM_017023474.1:c.153G>C, NR_125971.2:n.396G>C, NR_125971.1:n.693G>C, NM_001301775.2:c.225G>C, NM_001301775.1:c.225G>C, NM_001301769.2:c.153G>C, NM_001301769.1:c.153G>C, NM_001301771.2:c.153G>C, NM_001301771.1:c.153G>C, NM_001301773.2:c.153G>C, NM_001301773.1:c.153G>C, NM_001301774.2:c.153G>C, NM_001301774.1:c.153G>C, XM_024450356.2:c.153G>C, XM_024450356.1:c.153G>C, XM_024450357.2:c.153G>C, XM_024450357.1:c.153G>C, XM_047434370.1:c.153G>C, XM_047434368.1:c.225G>C, XM_047434369.1:c.153G>C

Select item 14782506312.

rs1478250631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:21174057 (GRCh38)
16:21185378 (GRCh37)
Canonical SPDI:: NC_000016.10:21174056:G:A
Gene:: LDAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.21174057G>A, NC_000016.9:g.21185378G>A, NM_020422.6:c.313G>A, NM_020422.5:c.313G>A, NM_020422.4:c.313G>A, XM_006721067.5:c.385G>A, XM_006721067.4:c.385G>A, XM_006721067.3:c.385G>A, XM_006721067.2:c.385G>A, XM_006721067.1:c.385G>A, XM_017023473.3:c.313G>A, XM_017023473.2:c.313G>A, XM_017023473.1:c.313G>A, XM_006721066.3:c.385G>A, XM_006721066.2:c.385G>A, XM_006721066.1:c.385G>A, XM_017023471.2:c.385G>A, XM_017023471.1:c.385G>A, XM_017023474.2:c.313G>A, XM_017023474.1:c.313G>A, NR_125971.2:n.556G>A, NR_125971.1:n.853G>A, NM_001301775.2:c.385G>A, NM_001301775.1:c.385G>A, NM_001301769.2:c.313G>A, NM_001301769.1:c.313G>A, NM_001301771.2:c.313G>A, NM_001301771.1:c.313G>A, XM_024450356.2:c.313G>A, XM_024450356.1:c.313G>A, XM_024450357.2:c.313G>A, XM_024450357.1:c.313G>A, XM_047434370.1:c.313G>A, XM_047434368.1:c.385G>A, XM_047434369.1:c.313G>A, NP_065155.3:p.Gly105Ser, XP_006721130.1:p.Gly129Ser, XP_016878962.1:p.Gly105Ser, XP_006721129.1:p.Gly129Ser, XP_016878960.1:p.Gly129Ser, XP_016878963.1:p.Gly105Ser, NP_001288704.1:p.Gly129Ser, NP_001288698.1:p.Gly105Ser, NP_001288700.1:p.Gly105Ser, XP_024306124.1:p.Gly105Ser, XP_024306125.1:p.Gly105Ser, XP_047290326.1:p.Gly105Ser, XP_047290324.1:p.Gly129Ser, XP_047290325.1:p.Gly105Ser

Select item 14748909893.

rs1474890989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21161240 (GRCh38)
16:21172561 (GRCh37)
Canonical SPDI:: NC_000016.10:21161239:C:T
Gene:: DNAH3 (Varview), LDAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.21161240C>T, NC_000016.9:g.21172561C>T, NG_052617.1:g.3202G>A, NM_020422.6:c.58C>T, NM_020422.5:c.58C>T, NM_020422.4:c.58C>T, XM_006721067.5:c.58C>T, XM_006721067.4:c.58C>T, XM_006721067.3:c.58C>T, XM_006721067.2:c.58C>T, XM_006721067.1:c.58C>T, XM_006721069.4:c.58C>T, XM_006721069.3:c.58C>T, XM_006721069.2:c.58C>T, XM_006721069.1:c.58C>T, XM_017023473.3:c.58C>T, XM_017023473.2:c.58C>T, XM_017023473.1:c.58C>T, XM_006721066.3:c.58C>T, XM_006721066.2:c.58C>T, XM_006721066.1:c.58C>T, XM_017023471.2:c.58C>T, XM_017023471.1:c.58C>T, XM_017023474.2:c.58C>T, XM_017023474.1:c.58C>T, NR_125971.2:n.229C>T, NR_125971.1:n.526C>T, NM_001301775.2:c.58C>T, NM_001301775.1:c.58C>T, NM_001301769.2:c.58C>T, NM_001301769.1:c.58C>T, NM_001301771.2:c.58C>T, NM_001301771.1:c.58C>T, NM_001301773.2:c.58C>T, NM_001301773.1:c.58C>T, NM_001301774.2:c.58C>T, NM_001301774.1:c.58C>T, XM_024450356.2:c.58C>T, XM_024450356.1:c.58C>T, XM_024450357.2:c.58C>T, XM_024450357.1:c.58C>T, XM_047434370.1:c.58C>T, XM_047434368.1:c.58C>T, XM_047434369.1:c.58C>T

Select item 14737848374.

rs1473784837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21178803 (GRCh38)
16:21190124 (GRCh37)
Canonical SPDI:: NC_000016.10:21178802:C:T
Gene:: LDAF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.21178803C>T, NC_000016.9:g.21190124C>T, NW_017852933.1:g.2494C>T, XM_006721067.5:c.483C>T, XM_006721067.4:c.483C>T, XM_006721067.3:c.483C>T, XM_006721067.2:c.483C>T, XM_006721067.1:c.483C>T, XM_017023473.3:c.*1569C>T, NR_125971.2:n.654C>T, NR_125971.1:n.951C>T, XM_024450356.2:c.411C>T, XM_024450356.1:c.411C>T, XM_024450357.2:c.411C>T, XM_024450357.1:c.411C>T, XM_047434370.1:c.*1645C>T

Select item 14724427885.

rs1472442788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:21174074 (GRCh38)
16:21185395 (GRCh37)
Canonical SPDI:: NC_000016.10:21174073:A:C,NC_000016.10:21174073:A:G
Gene:: LDAF1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.00655/12 (Korea1K)
HGVS:: NC_000016.10:g.21174074A>C, NC_000016.10:g.21174074A>G, NC_000016.9:g.21185395A>C, NC_000016.9:g.21185395A>G, NM_020422.6:c.330A>C, NM_020422.6:c.330A>G, NM_020422.5:c.330A>C, NM_020422.5:c.330A>G, NM_020422.4:c.330A>C, NM_020422.4:c.330A>G, XM_006721067.5:c.402A>C, XM_006721067.5:c.402A>G, XM_006721067.4:c.402A>C, XM_006721067.4:c.402A>G, XM_006721067.3:c.402A>C, XM_006721067.3:c.402A>G, XM_006721067.2:c.402A>C, XM_006721067.2:c.402A>G, XM_006721067.1:c.402A>C, XM_006721067.1:c.402A>G, XM_017023473.3:c.330A>C, XM_017023473.3:c.330A>G, XM_017023473.2:c.330A>C, XM_017023473.2:c.330A>G, XM_017023473.1:c.330A>C, XM_017023473.1:c.330A>G, XM_006721066.3:c.402A>C, XM_006721066.3:c.402A>G, XM_006721066.2:c.402A>C, XM_006721066.2:c.402A>G, XM_006721066.1:c.402A>C, XM_006721066.1:c.402A>G, XM_017023471.2:c.402A>C, XM_017023471.2:c.402A>G, XM_017023471.1:c.402A>C, XM_017023471.1:c.402A>G, XM_017023474.2:c.330A>C, XM_017023474.2:c.330A>G, XM_017023474.1:c.330A>C, XM_017023474.1:c.330A>G, NR_125971.2:n.573A>C, NR_125971.2:n.573A>G, NR_125971.1:n.870A>C, NR_125971.1:n.870A>G, NM_001301775.2:c.402A>C, NM_001301775.2:c.402A>G, NM_001301775.1:c.402A>C, NM_001301775.1:c.402A>G, NM_001301769.2:c.330A>C, NM_001301769.2:c.330A>G, NM_001301769.1:c.330A>C, NM_001301769.1:c.330A>G, NM_001301771.2:c.330A>C, NM_001301771.2:c.330A>G, NM_001301771.1:c.330A>C, NM_001301771.1:c.330A>G, XM_024450356.2:c.330A>C, XM_024450356.2:c.330A>G, XM_024450356.1:c.330A>C, XM_024450356.1:c.330A>G, XM_024450357.2:c.330A>C, XM_024450357.2:c.330A>G, XM_024450357.1:c.330A>C, XM_024450357.1:c.330A>G, XM_047434370.1:c.330A>C, XM_047434370.1:c.330A>G, XM_047434368.1:c.402A>C, XM_047434368.1:c.402A>G, XM_047434369.1:c.330A>C, XM_047434369.1:c.330A>G

Select item 14716947056.

rs1471694705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21166891 (GRCh38)
16:21178212 (GRCh37)
Canonical SPDI:: NC_000016.10:21166890:C:T
Gene:: LDAF1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21166891C>T, NC_000016.9:g.21178212C>T, XM_006721067.5:c.148C>T, XM_006721067.4:c.148C>T, XM_006721067.3:c.148C>T, XM_006721067.2:c.148C>T, XM_006721067.1:c.148C>T, XM_006721069.4:c.148C>T, XM_006721069.3:c.148C>T, XM_006721069.2:c.148C>T, XM_006721069.1:c.148C>T, XM_006721066.3:c.148C>T, XM_006721066.2:c.148C>T, XM_006721066.1:c.148C>T, XM_017023471.2:c.148C>T, XM_017023471.1:c.148C>T, NR_125971.2:n.319C>T, NR_125971.1:n.616C>T, NM_001301775.2:c.148C>T, NM_001301775.1:c.148C>T, XM_047434368.1:c.148C>T

Select item 14706619397.

rs1470661939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:21170570 (GRCh38)
16:21181891 (GRCh37)
Canonical SPDI:: NC_000016.10:21170569:C:A
Gene:: LDAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.21170570C>A, NC_000016.9:g.21181891C>A, NM_020422.6:c.230C>A, NM_020422.5:c.230C>A, NM_020422.4:c.230C>A, XM_006721067.5:c.302C>A, XM_006721067.4:c.302C>A, XM_006721067.3:c.302C>A, XM_006721067.2:c.302C>A, XM_006721067.1:c.302C>A, XM_006721069.4:c.302C>A, XM_006721069.3:c.302C>A, XM_006721069.2:c.302C>A, XM_006721069.1:c.302C>A, XM_017023473.3:c.230C>A, XM_017023473.2:c.230C>A, XM_017023473.1:c.230C>A, XM_006721066.3:c.302C>A, XM_006721066.2:c.302C>A, XM_006721066.1:c.302C>A, XM_017023471.2:c.302C>A, XM_017023471.1:c.302C>A, XM_017023474.2:c.230C>A, XM_017023474.1:c.230C>A, NR_125971.2:n.473C>A, NR_125971.1:n.770C>A, NM_001301775.2:c.302C>A, NM_001301775.1:c.302C>A, NM_001301769.2:c.230C>A, NM_001301769.1:c.230C>A, NM_001301771.2:c.230C>A, NM_001301771.1:c.230C>A, NM_001301773.2:c.230C>A, NM_001301773.1:c.230C>A, NM_001301774.2:c.230C>A, NM_001301774.1:c.230C>A, XM_024450356.2:c.230C>A, XM_024450356.1:c.230C>A, XM_024450357.2:c.230C>A, XM_024450357.1:c.230C>A, XM_047434370.1:c.230C>A, XM_047434368.1:c.302C>A, XM_047434369.1:c.230C>A, NP_065155.3:p.Thr77Asn, XP_006721130.1:p.Thr101Asn, XP_006721132.1:p.Thr101Asn, XP_016878962.1:p.Thr77Asn, XP_006721129.1:p.Thr101Asn, XP_016878960.1:p.Thr101Asn, XP_016878963.1:p.Thr77Asn, NP_001288704.1:p.Thr101Asn, NP_001288698.1:p.Thr77Asn, NP_001288700.1:p.Thr77Asn, NP_001288702.1:p.Thr77Asn, NP_001288703.1:p.Thr77Asn, XP_024306124.1:p.Thr77Asn, XP_024306125.1:p.Thr77Asn, XP_047290326.1:p.Thr77Asn, XP_047290324.1:p.Thr101Asn, XP_047290325.1:p.Thr77Asn

Select item 14662094178.

rs1466209417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:21166846 (GRCh38)
16:21178167 (GRCh37)
Canonical SPDI:: NC_000016.10:21166845:C:A,NC_000016.10:21166845:C:T
Gene:: LDAF1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,stop_gained,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21166846C>A, NC_000016.10:g.21166846C>T, NC_000016.9:g.21178167C>A, NC_000016.9:g.21178167C>T, XM_006721067.5:c.103C>A, XM_006721067.5:c.103C>T, XM_006721067.4:c.103C>A, XM_006721067.4:c.103C>T, XM_006721067.3:c.103C>A, XM_006721067.3:c.103C>T, XM_006721067.2:c.103C>A, XM_006721067.2:c.103C>T, XM_006721067.1:c.103C>A, XM_006721067.1:c.103C>T, XM_006721069.4:c.103C>A, XM_006721069.4:c.103C>T, XM_006721069.3:c.103C>A, XM_006721069.3:c.103C>T, XM_006721069.2:c.103C>A, XM_006721069.2:c.103C>T, XM_006721069.1:c.103C>A, XM_006721069.1:c.103C>T, XM_006721066.3:c.103C>A, XM_006721066.3:c.103C>T, XM_006721066.2:c.103C>A, XM_006721066.2:c.103C>T, XM_006721066.1:c.103C>A, XM_006721066.1:c.103C>T, XM_017023471.2:c.103C>A, XM_017023471.2:c.103C>T, XM_017023471.1:c.103C>A, XM_017023471.1:c.103C>T, NR_125971.2:n.274C>A, NR_125971.2:n.274C>T, NR_125971.1:n.571C>A, NR_125971.1:n.571C>T, NM_001301775.2:c.103C>A, NM_001301775.2:c.103C>T, NM_001301775.1:c.103C>A, NM_001301775.1:c.103C>T, XM_047434368.1:c.103C>A, XM_047434368.1:c.103C>T, XP_006721130.1:p.Gln35Lys, XP_006721130.1:p.Gln35Ter, XP_006721132.1:p.Gln35Lys, XP_006721132.1:p.Gln35Ter, XP_006721129.1:p.Gln35Lys, XP_006721129.1:p.Gln35Ter, XP_016878960.1:p.Gln35Lys, XP_016878960.1:p.Gln35Ter, NP_001288704.1:p.Gln35Lys, NP_001288704.1:p.Gln35Ter, XP_047290324.1:p.Gln35Lys, XP_047290324.1:p.Gln35Ter

Select item 14618041659.

rs1461804165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:21170542 (GRCh38)
16:21181863 (GRCh37)
Canonical SPDI:: NC_000016.10:21170541:T:G
Gene:: LDAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.21170542T>G, NC_000016.9:g.21181863T>G, NM_020422.6:c.202T>G, NM_020422.5:c.202T>G, NM_020422.4:c.202T>G, XM_006721067.5:c.274T>G, XM_006721067.4:c.274T>G, XM_006721067.3:c.274T>G, XM_006721067.2:c.274T>G, XM_006721067.1:c.274T>G, XM_006721069.4:c.274T>G, XM_006721069.3:c.274T>G, XM_006721069.2:c.274T>G, XM_006721069.1:c.274T>G, XM_017023473.3:c.202T>G, XM_017023473.2:c.202T>G, XM_017023473.1:c.202T>G, XM_006721066.3:c.274T>G, XM_006721066.2:c.274T>G, XM_006721066.1:c.274T>G, XM_017023471.2:c.274T>G, XM_017023471.1:c.274T>G, XM_017023474.2:c.202T>G, XM_017023474.1:c.202T>G, NR_125971.2:n.445T>G, NR_125971.1:n.742T>G, NM_001301775.2:c.274T>G, NM_001301775.1:c.274T>G, NM_001301769.2:c.202T>G, NM_001301769.1:c.202T>G, NM_001301771.2:c.202T>G, NM_001301771.1:c.202T>G, NM_001301773.2:c.202T>G, NM_001301773.1:c.202T>G, NM_001301774.2:c.202T>G, NM_001301774.1:c.202T>G, XM_024450356.2:c.202T>G, XM_024450356.1:c.202T>G, XM_024450357.2:c.202T>G, XM_024450357.1:c.202T>G, XM_047434370.1:c.202T>G, XM_047434368.1:c.274T>G, XM_047434369.1:c.202T>G, NP_065155.3:p.Phe68Val, XP_006721130.1:p.Phe92Val, XP_006721132.1:p.Phe92Val, XP_016878962.1:p.Phe68Val, XP_006721129.1:p.Phe92Val, XP_016878960.1:p.Phe92Val, XP_016878963.1:p.Phe68Val, NP_001288704.1:p.Phe92Val, NP_001288698.1:p.Phe68Val, NP_001288700.1:p.Phe68Val, NP_001288702.1:p.Phe68Val, NP_001288703.1:p.Phe68Val, XP_024306124.1:p.Phe68Val, XP_024306125.1:p.Phe68Val, XP_047290326.1:p.Phe68Val, XP_047290324.1:p.Phe92Val, XP_047290325.1:p.Phe68Val

Select item 145583098910.

rs1455830989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:21166900 (GRCh38)
16:21178221 (GRCh37)
Canonical SPDI:: NC_000016.10:21166899:G:A
Gene:: LDAF1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21166900G>A, NC_000016.9:g.21178221G>A, XM_006721067.5:c.157G>A, XM_006721067.4:c.157G>A, XM_006721067.3:c.157G>A, XM_006721067.2:c.157G>A, XM_006721067.1:c.157G>A, XM_006721069.4:c.157G>A, XM_006721069.3:c.157G>A, XM_006721069.2:c.157G>A, XM_006721069.1:c.157G>A, XM_006721066.3:c.157G>A, XM_006721066.2:c.157G>A, XM_006721066.1:c.157G>A, XM_017023471.2:c.157G>A, XM_017023471.1:c.157G>A, NR_125971.2:n.328G>A, NR_125971.1:n.625G>A, NM_001301775.2:c.157G>A, NM_001301775.1:c.157G>A, XM_047434368.1:c.157G>A, XP_006721130.1:p.Ala53Thr, XP_006721132.1:p.Ala53Thr, XP_006721129.1:p.Ala53Thr, XP_016878960.1:p.Ala53Thr, NP_001288704.1:p.Ala53Thr, XP_047290324.1:p.Ala53Thr

Select item 145455159811.

rs1454551598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:21170513 (GRCh38)
16:21181834 (GRCh37)
Canonical SPDI:: NC_000016.10:21170512:T:C
Gene:: LDAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21170513T>C, NC_000016.9:g.21181834T>C, NM_020422.6:c.173T>C, NM_020422.5:c.173T>C, NM_020422.4:c.173T>C, XM_006721067.5:c.245T>C, XM_006721067.4:c.245T>C, XM_006721067.3:c.245T>C, XM_006721067.2:c.245T>C, XM_006721067.1:c.245T>C, XM_006721069.4:c.245T>C, XM_006721069.3:c.245T>C, XM_006721069.2:c.245T>C, XM_006721069.1:c.245T>C, XM_017023473.3:c.173T>C, XM_017023473.2:c.173T>C, XM_017023473.1:c.173T>C, XM_006721066.3:c.245T>C, XM_006721066.2:c.245T>C, XM_006721066.1:c.245T>C, XM_017023471.2:c.245T>C, XM_017023471.1:c.245T>C, XM_017023474.2:c.173T>C, XM_017023474.1:c.173T>C, NR_125971.2:n.416T>C, NR_125971.1:n.713T>C, NM_001301775.2:c.245T>C, NM_001301775.1:c.245T>C, NM_001301769.2:c.173T>C, NM_001301769.1:c.173T>C, NM_001301771.2:c.173T>C, NM_001301771.1:c.173T>C, NM_001301773.2:c.173T>C, NM_001301773.1:c.173T>C, NM_001301774.2:c.173T>C, NM_001301774.1:c.173T>C, XM_024450356.2:c.173T>C, XM_024450356.1:c.173T>C, XM_024450357.2:c.173T>C, XM_024450357.1:c.173T>C, XM_047434370.1:c.173T>C, XM_047434368.1:c.245T>C, XM_047434369.1:c.173T>C, NP_065155.3:p.Phe58Ser, XP_006721130.1:p.Phe82Ser, XP_006721132.1:p.Phe82Ser, XP_016878962.1:p.Phe58Ser, XP_006721129.1:p.Phe82Ser, XP_016878960.1:p.Phe82Ser, XP_016878963.1:p.Phe58Ser, NP_001288704.1:p.Phe82Ser, NP_001288698.1:p.Phe58Ser, NP_001288700.1:p.Phe58Ser, NP_001288702.1:p.Phe58Ser, NP_001288703.1:p.Phe58Ser, XP_024306124.1:p.Phe58Ser, XP_024306125.1:p.Phe58Ser, XP_047290326.1:p.Phe58Ser, XP_047290324.1:p.Phe82Ser, XP_047290325.1:p.Phe58Ser

Select item 145193856412.

rs1451938564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:21166872 (GRCh38)
16:21178193 (GRCh37)
Canonical SPDI:: NC_000016.10:21166871:T:C,NC_000016.10:21166871:T:G
Gene:: LDAF1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.21166872T>C, NC_000016.10:g.21166872T>G, NC_000016.9:g.21178193T>C, NC_000016.9:g.21178193T>G, XM_006721067.5:c.129T>C, XM_006721067.5:c.129T>G, XM_006721067.4:c.129T>C, XM_006721067.4:c.129T>G, XM_006721067.3:c.129T>C, XM_006721067.3:c.129T>G, XM_006721067.2:c.129T>C, XM_006721067.2:c.129T>G, XM_006721067.1:c.129T>C, XM_006721067.1:c.129T>G, XM_006721069.4:c.129T>C, XM_006721069.4:c.129T>G, XM_006721069.3:c.129T>C, XM_006721069.3:c.129T>G, XM_006721069.2:c.129T>C, XM_006721069.2:c.129T>G, XM_006721069.1:c.129T>C, XM_006721069.1:c.129T>G, XM_006721066.3:c.129T>C, XM_006721066.3:c.129T>G, XM_006721066.2:c.129T>C, XM_006721066.2:c.129T>G, XM_006721066.1:c.129T>C, XM_006721066.1:c.129T>G, XM_017023471.2:c.129T>C, XM_017023471.2:c.129T>G, XM_017023471.1:c.129T>C, XM_017023471.1:c.129T>G, NR_125971.2:n.300T>C, NR_125971.2:n.300T>G, NR_125971.1:n.597T>C, NR_125971.1:n.597T>G, NM_001301775.2:c.129T>C, NM_001301775.2:c.129T>G, NM_001301775.1:c.129T>C, NM_001301775.1:c.129T>G, XM_047434368.1:c.129T>C, XM_047434368.1:c.129T>G

Select item 145107864213.

rs1451078642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:21161269 (GRCh38)
16:21172590 (GRCh37)
Canonical SPDI:: NC_000016.10:21161268:T:C
Gene:: DNAH3 (Varview), LDAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21161269T>C, NC_000016.9:g.21172590T>C, NG_052617.1:g.3173A>G, NM_020422.6:c.87T>C, NM_020422.5:c.87T>C, NM_020422.4:c.87T>C, XM_006721067.5:c.87T>C, XM_006721067.4:c.87T>C, XM_006721067.3:c.87T>C, XM_006721067.2:c.87T>C, XM_006721067.1:c.87T>C, XM_006721069.4:c.87T>C, XM_006721069.3:c.87T>C, XM_006721069.2:c.87T>C, XM_006721069.1:c.87T>C, XM_017023473.3:c.87T>C, XM_017023473.2:c.87T>C, XM_017023473.1:c.87T>C, XM_006721066.3:c.87T>C, XM_006721066.2:c.87T>C, XM_006721066.1:c.87T>C, XM_017023471.2:c.87T>C, XM_017023471.1:c.87T>C, XM_017023474.2:c.87T>C, XM_017023474.1:c.87T>C, NR_125971.2:n.258T>C, NR_125971.1:n.555T>C, NM_001301775.2:c.87T>C, NM_001301775.1:c.87T>C, NM_001301769.2:c.87T>C, NM_001301769.1:c.87T>C, NM_001301771.2:c.87T>C, NM_001301771.1:c.87T>C, NM_001301773.2:c.87T>C, NM_001301773.1:c.87T>C, NM_001301774.2:c.87T>C, NM_001301774.1:c.87T>C, XM_024450356.2:c.87T>C, XM_024450356.1:c.87T>C, XM_024450357.2:c.87T>C, XM_024450357.1:c.87T>C, XM_047434370.1:c.87T>C, XM_047434368.1:c.87T>C, XM_047434369.1:c.87T>C

Select item 144799411014.

rs1447994110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21174103 (GRCh38)
16:21185424 (GRCh37)
Canonical SPDI:: NC_000016.10:21174102:C:T
Gene:: LDAF1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21174103C>T, NC_000016.9:g.21185424C>T, NM_020422.6:c.359C>T, NM_020422.5:c.359C>T, NM_020422.4:c.359C>T, XM_006721067.5:c.431C>T, XM_006721067.4:c.431C>T, XM_006721067.3:c.431C>T, XM_006721067.2:c.431C>T, XM_006721067.1:c.431C>T, XM_017023473.3:c.359C>T, XM_017023473.2:c.359C>T, XM_017023473.1:c.359C>T, XM_006721066.3:c.431C>T, XM_006721066.2:c.431C>T, XM_006721066.1:c.431C>T, XM_017023471.2:c.431C>T, XM_017023471.1:c.431C>T, XM_017023474.2:c.359C>T, XM_017023474.1:c.359C>T, NR_125971.2:n.602C>T, NR_125971.1:n.899C>T, NM_001301775.2:c.431C>T, NM_001301775.1:c.431C>T, NM_001301769.2:c.359C>T, NM_001301769.1:c.359C>T, NM_001301771.2:c.359C>T, NM_001301771.1:c.359C>T, XM_024450356.2:c.359C>T, XM_024450356.1:c.359C>T, XM_024450357.2:c.359C>T, XM_024450357.1:c.359C>T, XM_047434370.1:c.359C>T, XM_047434368.1:c.431C>T, XM_047434369.1:c.359C>T, NP_065155.3:p.Ser120Phe, XP_006721130.1:p.Ser144Phe, XP_016878962.1:p.Ser120Phe, XP_006721129.1:p.Ser144Phe, XP_016878960.1:p.Ser144Phe, XP_016878963.1:p.Ser120Phe, NP_001288704.1:p.Ser144Phe, NP_001288698.1:p.Ser120Phe, NP_001288700.1:p.Ser120Phe, XP_024306124.1:p.Ser120Phe, XP_024306125.1:p.Ser120Phe, XP_047290326.1:p.Ser120Phe, XP_047290324.1:p.Ser144Phe, XP_047290325.1:p.Ser120Phe

Select item 144760612215.

rs1447606122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:21161247 (GRCh38)
16:21172568 (GRCh37)
Canonical SPDI:: NC_000016.10:21161246:T:A
Gene:: DNAH3 (Varview), LDAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21161247T>A, NC_000016.9:g.21172568T>A, NG_052617.1:g.3195A>T, NM_020422.6:c.65T>A, NM_020422.5:c.65T>A, NM_020422.4:c.65T>A, XM_006721067.5:c.65T>A, XM_006721067.4:c.65T>A, XM_006721067.3:c.65T>A, XM_006721067.2:c.65T>A, XM_006721067.1:c.65T>A, XM_006721069.4:c.65T>A, XM_006721069.3:c.65T>A, XM_006721069.2:c.65T>A, XM_006721069.1:c.65T>A, XM_017023473.3:c.65T>A, XM_017023473.2:c.65T>A, XM_017023473.1:c.65T>A, XM_006721066.3:c.65T>A, XM_006721066.2:c.65T>A, XM_006721066.1:c.65T>A, XM_017023471.2:c.65T>A, XM_017023471.1:c.65T>A, XM_017023474.2:c.65T>A, XM_017023474.1:c.65T>A, NR_125971.2:n.236T>A, NR_125971.1:n.533T>A, NM_001301775.2:c.65T>A, NM_001301775.1:c.65T>A, NM_001301769.2:c.65T>A, NM_001301769.1:c.65T>A, NM_001301771.2:c.65T>A, NM_001301771.1:c.65T>A, NM_001301773.2:c.65T>A, NM_001301773.1:c.65T>A, NM_001301774.2:c.65T>A, NM_001301774.1:c.65T>A, XM_024450356.2:c.65T>A, XM_024450356.1:c.65T>A, XM_024450357.2:c.65T>A, XM_024450357.1:c.65T>A, XM_047434370.1:c.65T>A, XM_047434368.1:c.65T>A, XM_047434369.1:c.65T>A, NP_065155.3:p.Leu22Gln, XP_006721130.1:p.Leu22Gln, XP_006721132.1:p.Leu22Gln, XP_016878962.1:p.Leu22Gln, XP_006721129.1:p.Leu22Gln, XP_016878960.1:p.Leu22Gln, XP_016878963.1:p.Leu22Gln, NP_001288704.1:p.Leu22Gln, NP_001288698.1:p.Leu22Gln, NP_001288700.1:p.Leu22Gln, NP_001288702.1:p.Leu22Gln, NP_001288703.1:p.Leu22Gln, XP_024306124.1:p.Leu22Gln, XP_024306125.1:p.Leu22Gln, XP_047290326.1:p.Leu22Gln, XP_047290324.1:p.Leu22Gln, XP_047290325.1:p.Leu22Gln

Select item 144130988416.

rs1441309884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:21174133 (GRCh38)
16:21185454 (GRCh37)
Canonical SPDI:: NC_000016.10:21174132:G:A,NC_000016.10:21174132:G:C
Gene:: LDAF1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.21174133G>A, NC_000016.10:g.21174133G>C, NC_000016.9:g.21185454G>A, NC_000016.9:g.21185454G>C, NM_020422.6:c.389G>A, NM_020422.6:c.389G>C, NM_020422.5:c.389G>A, NM_020422.5:c.389G>C, NM_020422.4:c.389G>A, NM_020422.4:c.389G>C, XM_006721067.5:c.461G>A, XM_006721067.5:c.461G>C, XM_006721067.4:c.461G>A, XM_006721067.4:c.461G>C, XM_006721067.3:c.461G>A, XM_006721067.3:c.461G>C, XM_006721067.2:c.461G>A, XM_006721067.2:c.461G>C, XM_006721067.1:c.461G>A, XM_006721067.1:c.461G>C, XM_017023473.3:c.389G>A, XM_017023473.3:c.389G>C, XM_017023473.2:c.389G>A, XM_017023473.2:c.389G>C, XM_017023473.1:c.389G>A, XM_017023473.1:c.389G>C, XM_006721066.3:c.461G>A, XM_006721066.3:c.461G>C, XM_006721066.2:c.461G>A, XM_006721066.2:c.461G>C, XM_006721066.1:c.461G>A, XM_006721066.1:c.461G>C, XM_017023471.2:c.461G>A, XM_017023471.2:c.461G>C, XM_017023471.1:c.461G>A, XM_017023471.1:c.461G>C, XM_017023474.2:c.389G>A, XM_017023474.2:c.389G>C, XM_017023474.1:c.389G>A, XM_017023474.1:c.389G>C, NR_125971.2:n.632G>A, NR_125971.2:n.632G>C, NR_125971.1:n.929G>A, NR_125971.1:n.929G>C, NM_001301775.2:c.461G>A, NM_001301775.2:c.461G>C, NM_001301775.1:c.461G>A, NM_001301775.1:c.461G>C, NM_001301769.2:c.389G>A, NM_001301769.2:c.389G>C, NM_001301769.1:c.389G>A, NM_001301769.1:c.389G>C, NM_001301771.2:c.389G>A, NM_001301771.2:c.389G>C, NM_001301771.1:c.389G>A, NM_001301771.1:c.389G>C, XM_024450356.2:c.389G>A, XM_024450356.2:c.389G>C, XM_024450356.1:c.389G>A, XM_024450356.1:c.389G>C, XM_024450357.2:c.389G>A, XM_024450357.2:c.389G>C, XM_024450357.1:c.389G>A, XM_024450357.1:c.389G>C, XM_047434370.1:c.389G>A, XM_047434370.1:c.389G>C, XM_047434368.1:c.461G>A, XM_047434368.1:c.461G>C, XM_047434369.1:c.389G>A, XM_047434369.1:c.389G>C, NP_065155.3:p.Cys130Tyr, NP_065155.3:p.Cys130Ser, XP_006721130.1:p.Cys154Tyr, XP_006721130.1:p.Cys154Ser, XP_016878962.1:p.Cys130Tyr, XP_016878962.1:p.Cys130Ser, XP_006721129.1:p.Cys154Tyr, XP_006721129.1:p.Cys154Ser, XP_016878960.1:p.Cys154Tyr, XP_016878960.1:p.Cys154Ser, XP_016878963.1:p.Cys130Tyr, XP_016878963.1:p.Cys130Ser, NP_001288704.1:p.Cys154Tyr, NP_001288704.1:p.Cys154Ser, NP_001288698.1:p.Cys130Tyr, NP_001288698.1:p.Cys130Ser, NP_001288700.1:p.Cys130Tyr, NP_001288700.1:p.Cys130Ser, XP_024306124.1:p.Cys130Tyr, XP_024306124.1:p.Cys130Ser, XP_024306125.1:p.Cys130Tyr, XP_024306125.1:p.Cys130Ser, XP_047290326.1:p.Cys130Tyr, XP_047290326.1:p.Cys130Ser, XP_047290324.1:p.Cys154Tyr, XP_047290324.1:p.Cys154Ser, XP_047290325.1:p.Cys130Tyr, XP_047290325.1:p.Cys130Ser

Select item 143696099717.

rs1436960997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:21166892 (GRCh38)
16:21178213 (GRCh37)
Canonical SPDI:: NC_000016.10:21166891:T:G
Gene:: LDAF1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.21166892T>G, NC_000016.9:g.21178213T>G, XM_006721067.5:c.149T>G, XM_006721067.4:c.149T>G, XM_006721067.3:c.149T>G, XM_006721067.2:c.149T>G, XM_006721067.1:c.149T>G, XM_006721069.4:c.149T>G, XM_006721069.3:c.149T>G, XM_006721069.2:c.149T>G, XM_006721069.1:c.149T>G, XM_006721066.3:c.149T>G, XM_006721066.2:c.149T>G, XM_006721066.1:c.149T>G, XM_017023471.2:c.149T>G, XM_017023471.1:c.149T>G, NR_125971.2:n.320T>G, NR_125971.1:n.617T>G, NM_001301775.2:c.149T>G, NM_001301775.1:c.149T>G, XM_047434368.1:c.149T>G, XP_006721130.1:p.Leu50Arg, XP_006721132.1:p.Leu50Arg, XP_006721129.1:p.Leu50Arg, XP_016878960.1:p.Leu50Arg, NP_001288704.1:p.Leu50Arg, XP_047290324.1:p.Leu50Arg

Select item 143565393418.

rs1435653934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:21170588 (GRCh38)
16:21181909 (GRCh37)
Canonical SPDI:: NC_000016.10:21170587:G:T
Gene:: LDAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21170588G>T, NC_000016.9:g.21181909G>T, NM_020422.6:c.248G>T, NM_020422.5:c.248G>T, NM_020422.4:c.248G>T, XM_006721067.5:c.320G>T, XM_006721067.4:c.320G>T, XM_006721067.3:c.320G>T, XM_006721067.2:c.320G>T, XM_006721067.1:c.320G>T, XM_006721069.4:c.320G>T, XM_006721069.3:c.320G>T, XM_006721069.2:c.320G>T, XM_006721069.1:c.320G>T, XM_017023473.3:c.248G>T, XM_017023473.2:c.248G>T, XM_017023473.1:c.248G>T, XM_006721066.3:c.320G>T, XM_006721066.2:c.320G>T, XM_006721066.1:c.320G>T, XM_017023471.2:c.320G>T, XM_017023471.1:c.320G>T, XM_017023474.2:c.248G>T, XM_017023474.1:c.248G>T, NR_125971.2:n.491G>T, NR_125971.1:n.788G>T, NM_001301775.2:c.320G>T, NM_001301775.1:c.320G>T, NM_001301769.2:c.248G>T, NM_001301769.1:c.248G>T, NM_001301771.2:c.248G>T, NM_001301771.1:c.248G>T, NM_001301773.2:c.248G>T, NM_001301773.1:c.248G>T, NM_001301774.2:c.248G>T, NM_001301774.1:c.248G>T, XM_024450356.2:c.248G>T, XM_024450356.1:c.248G>T, XM_024450357.2:c.248G>T, XM_024450357.1:c.248G>T, XM_047434370.1:c.248G>T, XM_047434368.1:c.320G>T, XM_047434369.1:c.248G>T, NP_065155.3:p.Gly83Val, XP_006721130.1:p.Gly107Val, XP_006721132.1:p.Gly107Val, XP_016878962.1:p.Gly83Val, XP_006721129.1:p.Gly107Val, XP_016878960.1:p.Gly107Val, XP_016878963.1:p.Gly83Val, NP_001288704.1:p.Gly107Val, NP_001288698.1:p.Gly83Val, NP_001288700.1:p.Gly83Val, NP_001288702.1:p.Gly83Val, NP_001288703.1:p.Gly83Val, XP_024306124.1:p.Gly83Val, XP_024306125.1:p.Gly83Val, XP_047290326.1:p.Gly83Val, XP_047290324.1:p.Gly107Val, XP_047290325.1:p.Gly83Val

Select item 143067777919.

rs1430677779 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 16:21161190 (GRCh38)
16:21172512 (GRCh37)
Canonical SPDI:: NC_000016.10:21161190:AGAG:AGAGAG
Gene:: DNAH3 (Varview), LDAF1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: AG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21161191AG[3], NC_000016.9:g.21172512AG[3], NG_052617.1:g.3248CT[3], NM_020422.6:c.11_12dup, NM_020422.5:c.11_12dup, NM_020422.4:c.11_12dup, XM_006721067.5:c.11_12dup, XM_006721067.4:c.11_12dup, XM_006721067.3:c.11_12dup, XM_006721067.2:c.11_12dup, XM_006721067.1:c.11_12dup, XM_006721069.4:c.11_12dup, XM_006721069.3:c.11_12dup, XM_006721069.2:c.11_12dup, XM_006721069.1:c.11_12dup, XM_017023473.3:c.11_12dup, XM_017023473.2:c.11_12dup, XM_017023473.1:c.11_12dup, XM_006721066.3:c.11_12dup, XM_006721066.2:c.11_12dup, XM_006721066.1:c.11_12dup, XM_017023471.2:c.11_12dup, XM_017023471.1:c.11_12dup, XM_017023474.2:c.11_12dup, XM_017023474.1:c.11_12dup, NR_125971.2:n.180AG[3], NR_125971.1:n.477AG[3], NM_001301775.2:c.11_12dup, NM_001301775.1:c.11_12dup, NM_001301769.2:c.11_12dup, NM_001301769.1:c.11_12dup, NM_001301771.2:c.11_12dup, NM_001301771.1:c.11_12dup, NM_001301773.2:c.11_12dup, NM_001301773.1:c.11_12dup, NM_001301774.2:c.11_12dup, NM_001301774.1:c.11_12dup, XM_024450356.2:c.11_12dup, XM_024450356.1:c.11_12dup, XM_024450357.2:c.11_12dup, XM_024450357.1:c.11_12dup, XM_047434370.1:c.11_12dup, XM_047434368.1:c.11_12dup, XM_047434369.1:c.11_12dup, NP_065155.3:p.Glu5fs, XP_006721130.1:p.Glu5fs, XP_006721132.1:p.Glu5fs, XP_016878962.1:p.Glu5fs, XP_006721129.1:p.Glu5fs, XP_016878960.1:p.Glu5fs, XP_016878963.1:p.Glu5fs, NP_001288704.1:p.Glu5fs, NP_001288698.1:p.Glu5fs, NP_001288700.1:p.Glu5fs, NP_001288702.1:p.Glu5fs, NP_001288703.1:p.Glu5fs, XP_024306124.1:p.Glu5fs, XP_024306125.1:p.Glu5fs, XP_047290326.1:p.Glu5fs, XP_047290324.1:p.Glu5fs, XP_047290325.1:p.Glu5fs

Select item 141462377020.

rs1414623770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:21174128 (GRCh38)
16:21185449 (GRCh37)
Canonical SPDI:: NC_000016.10:21174127:C:G
Gene:: LDAF1 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.21174128C>G, NC_000016.9:g.21185449C>G, NM_020422.6:c.384C>G, NM_020422.5:c.384C>G, NM_020422.4:c.384C>G, XM_006721067.5:c.456C>G, XM_006721067.4:c.456C>G, XM_006721067.3:c.456C>G, XM_006721067.2:c.456C>G, XM_006721067.1:c.456C>G, XM_017023473.3:c.384C>G, XM_017023473.2:c.384C>G, XM_017023473.1:c.384C>G, XM_006721066.3:c.456C>G, XM_006721066.2:c.456C>G, XM_006721066.1:c.456C>G, XM_017023471.2:c.456C>G, XM_017023471.1:c.456C>G, XM_017023474.2:c.384C>G, XM_017023474.1:c.384C>G, NR_125971.2:n.627C>G, NR_125971.1:n.924C>G, NM_001301775.2:c.456C>G, NM_001301775.1:c.456C>G, NM_001301769.2:c.384C>G, NM_001301769.1:c.384C>G, NM_001301771.2:c.384C>G, NM_001301771.1:c.384C>G, XM_024450356.2:c.384C>G, XM_024450356.1:c.384C>G, XM_024450357.2:c.384C>G, XM_024450357.1:c.384C>G, XM_047434370.1:c.384C>G, XM_047434368.1:c.456C>G, XM_047434369.1:c.384C>G, NP_065155.3:p.Ile128Met, XP_006721130.1:p.Ile152Met, XP_016878962.1:p.Ile128Met, XP_006721129.1:p.Ile152Met, XP_016878960.1:p.Ile152Met, XP_016878963.1:p.Ile128Met, NP_001288704.1:p.Ile152Met, NP_001288698.1:p.Ile128Met, NP_001288700.1:p.Ile128Met, XP_024306124.1:p.Ile128Met, XP_024306125.1:p.Ile128Met, XP_047290326.1:p.Ile128Met, XP_047290324.1:p.Ile152Met, XP_047290325.1:p.Ile128Met

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